Sheffield et al. (1998) reported mutation analysis on 16 males and 2 females with what they classified as the symmetric type of chondrodysplasia punctata, including individuals from 3 multigeneration families. Mutations in ARSE were found in 3 males. No mutations were detected in the ARSD gene. Family studies showed segregation of the mutations with phenotype, establishing X-linked inheritance in the families. Asymptomatic females and males were found in these studies. Sheffield et al. (1998) concluded that clinical presentation varied not only between unrelated affected males but also between affected males within the same family, and that the clinical diagnosis of chondrodysplasia punctata in adults can be difficult. Sheffield et al. (1998) also discussed the nosology of the chondrodysplasia punctata group.
Women with ALD should be evaluated for the development of neurologic symptoms. Since women with ALD very rarely develop adrenal insufficiency or cerebral involvement, periodic evaluation of adrenal function and brain MRI is not mandatory. Greater awareness among physicians that women can develop neurologic symptoms is important for counseling but also to prevent unnecessary diagnostic tests and erroneous diagnosis. We know of cases of women with ALD who underwent cervical laminectomy for presumed cervical spondylogenic myelopathy. For symptomatic women with ALD, we advise (as for men with AMN) a yearly evaluation by a neurologist to discuss the indication of rehabilitation, the referral to an urologist and treatment of spasticity and neuropathic pain.